EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group BEFREE In TRPS II intellectual disability is present in most but not all, and again typically mild to moderate in severity. 25792522 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group BEFREE However, these results suggest the involvement of EXT1 in the development of mental disorders, including mental retardation and autism. 12032595 2002
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group HPO